Variant report

Variant	rs6964079
Chromosome Location	chr7:6706631-6706632
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:6702535..6704854-chr7:6706365..6710112,3	K562	blood:

Variant related genes	Relation type
ENSG00000228010	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10255119	0.83[EUR][1000 genomes]
rs10271259	0.85[EUR][1000 genomes]
rs10951991	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12537448	1.00[CEU][hapmap];0.88[CHB][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12673800	1.00[CEU][hapmap];0.89[CHD][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1464922	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1464923	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2140906	0.85[ASN][1000 genomes]
rs2140909	0.88[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs3735302	0.88[CHB][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3757483	0.82[EUR][1000 genomes]
rs3801033	0.83[CHD][hapmap]
rs4720680	0.81[CHD][hapmap]
rs56257118	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58569329	0.85[EUR][1000 genomes]
rs58738503	0.83[EUR][1000 genomes]
rs60514449	0.82[EUR][1000 genomes]
rs62439670	0.85[EUR][1000 genomes]
rs62439674	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62439695	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62439697	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62441324	0.83[EUR][1000 genomes]
rs6463576	1.00[CEU][hapmap];0.86[CHD][hapmap];0.85[GIH][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs6944332	0.83[CHD][hapmap]
rs6948691	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6965641	0.94[EUR][1000 genomes]
rs6969066	0.82[EUR][1000 genomes]
rs6971621	1.00[CEU][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6974325	1.00[CEU][hapmap];0.82[CHB][hapmap];0.89[CHD][hapmap];0.85[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6979127	1.00[CEU][hapmap]
rs7357087	0.90[ASN][1000 genomes]
rs7791734	0.88[ASN][1000 genomes]
rs7798471	0.83[CHD][hapmap]
rs7808550	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9639027	0.81[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
2	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
3	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
4	nsv830895	chr7:6514781-6722092	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	nsv1025220	chr7:6534278-6736802	Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
6	nsv538717	chr7:6534278-6736802	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
7	nsv887432	chr7:6535517-6713985	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
8	nsv887434	chr7:6557135-6713985	Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
9	nsv606002	chr7:6567114-6713985	Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
10	nsv887435	chr7:6613604-6713985	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
11	nsv824002	chr7:6618087-6716961	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
12	nsv824003	chr7:6620920-6721409	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
13	nsv887436	chr7:6626922-6721661	Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
14	nsv606003	chr7:6628242-6713985	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
15	nsv887438	chr7:6652740-6709600	ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
16	esv1824232	chr7:6656753-6706631	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
17	esv1841674	chr7:6656753-6706631	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
18	nsv606006	chr7:6659509-6721661	ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
19	esv1803673	chr7:6671496-6721661	Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
20	esv1834684	chr7:6671496-6721661	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
21	esv1800946	chr7:6673956-6706631	Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
22	esv1813782	chr7:6673956-6706631	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
23	esv1818550	chr7:6673956-6706631	Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
24	esv1826832	chr7:6673956-6706631	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
25	esv1839832	chr7:6673956-6706631	Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
26	esv1851662	chr7:6673956-6706631	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
27	esv1834702	chr7:6690240-6706631	Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
28	esv1812078	chr7:6692105-6706631	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
29	nsv1015277	chr7:6705439-7303195	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6964079	C7orf28B	cis	multi-tissue	Pritchard

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6704200-6707200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:6704400-6707400	ZNF genes & repeats	Fetal Stomach	stomach
3	chr7:6704400-6707800	Weak transcription	Primary T cells from cord blood	blood
4	chr7:6704400-6708000	Weak transcription	Brain Angular Gyrus	brain
5	chr7:6704400-6709200	Weak transcription	Left Ventricle	heart
6	chr7:6704400-6709800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
7	chr7:6704400-6712600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr7:6704600-6707200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:6704800-6706800	Weak transcription	Fetal Brain Male	brain
10	chr7:6704800-6710000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
11	chr7:6704800-6710200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
12	chr7:6705200-6707000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
13	chr7:6705200-6707000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr7:6705200-6707200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
15	chr7:6705200-6707200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr7:6705200-6707200	Strong transcription	Ovary	ovary
17	chr7:6705200-6707400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:6705400-6707200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
19	chr7:6705600-6707000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr7:6706200-6706800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
21	chr7:6706200-6707000	ZNF genes & repeats	Fetal Brain Female	brain
22	chr7:6706200-6707200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
23	chr7:6706400-6706800	Strong transcription	Brain Anterior Caudate	brain
24	chr7:6706400-6706800	ZNF genes & repeats	Fetal Intestine Small	intestine
25	chr7:6706400-6707000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
26	chr7:6706400-6707000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr7:6706400-6707000	ZNF genes & repeats	Fetal Intestine Large	intestine
28	chr7:6706400-6707000	ZNF genes & repeats	Fetal Kidney	kidney
29	chr7:6706400-6707000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
30	chr7:6706400-6707000	Strong transcription	Placenta Amnion	Placenta Amnion
31	chr7:6706400-6707000	ZNF genes & repeats	Right Ventricle	heart
32	chr7:6706400-6707000	ZNF genes & repeats	Dnd41	blood
33	chr7:6706400-6707200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
34	chr7:6706400-6707200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
35	chr7:6706400-6707200	ZNF genes & repeats	Liver	Liver
36	chr7:6706400-6707200	ZNF genes & repeats	Brain Germinal Matrix	brain
37	chr7:6706400-6707200	ZNF genes & repeats	Fetal Muscle Leg	muscle
38	chr7:6706600-6706800	ZNF genes & repeats	Colon Smooth Muscle	Colon
39	chr7:6706600-6707000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:6706600-6707000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
41	chr7:6706600-6707000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr7:6706600-6707000	ZNF genes & repeats	Brain Cingulate Gyrus	brain
43	chr7:6706600-6707000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
44	chr7:6706600-6707000	ZNF genes & repeats	Fetal Lung	lung
45	chr7:6706600-6707000	ZNF genes & repeats	Pancreas	Pancrea
46	chr7:6706600-6707200	ZNF genes & repeats	Primary hematopoietic stem cells	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links